Canonical Allele Identifier: CA2146470874

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73186939_73186943delinsGGTCT , CM000676.2:g.73186939_73186943delinsGGTCT	GRCh38
NC_000014.8:g.73653647_73653651delinsGGTCT , CM000676.1:g.73653647_73653651delinsGGTCT	GRCh37
NC_000014.7:g.72723400_72723404delinsGGTCT	NCBI36
NG_007386.2:g.55469_55473delinsGGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.536+19_536+23delinsGGTCT	ENSP00000452477.2:n.536+19_536+23delinsGGTCT
ENST00000554131.6:c.548+19_548+23delinsGGTCT	ENSP00000451915.2:n.548+19_548+23delinsGGTCT
ENST00000555386.6:c.536+19_536+23delinsGGTCT	ENSP00000450845.1:n.536+19_536+23delinsGGTCT
ENST00000556066.2:n.974+19_974+23delinsGGTCT
ENST00000556951.6:c.536+19_536+23delinsGGTCT	ENSP00000450551.2:n.536+19_536+23delinsGGTCT
ENST00000557293.6:c.548+19_548+23delinsGGTCT	ENSP00000451880.2:n.548+19_548+23delinsGGTCT
ENST00000559361.6:c.*492+19_*492+23delinsGGTCT	ENSP00000454156.1:n.*492+19_*492+23delinsGGTCT
ENST00000697912.1:c.536+19_536+23delinsGGTCT	ENSP00000513477.1:n.536+19_536+23delinsGGTCT
ENST00000697913.1:n.802+19_802+23delinsGGTCT
ENST00000700265.1:c.536+19_536+23delinsGGTCT	ENSP00000514901.1:n.536+19_536+23delinsGGTCT
ENST00000700266.1:c.*760+19_*760+23delinsGGTCT	ENSP00000514902.1:n.*760+19_*760+23delinsGGTCT
ENST00000700267.1:c.548+19_548+23delinsGGTCT	ENSP00000514903.1:n.548+19_548+23delinsGGTCT
ENST00000700268.1:c.548+19_548+23delinsGGTCT	ENSP00000514904.1:n.548+19_548+23delinsGGTCT
ENST00000700269.1:c.548+19_548+23delinsGGTCT	ENSP00000514905.1:n.548+19_548+23delinsGGTCT
ENST00000700270.1:n.804+19_804+23delinsGGTCT
ENST00000700271.1:c.536+19_536+23delinsGGTCT	ENSP00000514906.1:n.536+19_536+23delinsGGTCT
ENST00000700272.1:c.*492+19_*492+23delinsGGTCT	ENSP00000514907.1:n.*492+19_*492+23delinsGGTCT
ENST00000700273.1:c.536+19_536+23delinsGGTCT	ENSP00000514908.1:n.536+19_536+23delinsGGTCT
ENST00000700302.1:c.548+19_548+23delinsGGTCT	ENSP00000514929.1:n.548+19_548+23delinsGGTCT
ENST00000700303.1:c.*210+19_*210+23delinsGGTCT	ENSP00000514930.1:n.*210+19_*210+23delinsGGTCT
ENST00000700304.1:c.*492+19_*492+23delinsGGTCT	ENSP00000514931.1:n.*492+19_*492+23delinsGGTCT
ENST00000700305.1:c.*106+19_*106+23delinsGGTCT	ENSP00000514932.1:n.*106+19_*106+23delinsGGTCT
ENST00000700306.1:c.548+19_548+23delinsGGTCT	ENSP00000514933.1:n.548+19_548+23delinsGGTCT
ENST00000700307.1:c.548+19_548+23delinsGGTCT	ENSP00000514934.1:n.548+19_548+23delinsGGTCT
ENST00000700308.1:c.*492+19_*492+23delinsGGTCT	ENSP00000514935.1:n.*492+19_*492+23delinsGGTCT
ENST00000700309.1:c.*637+19_*637+23delinsGGTCT	ENSP00000514936.1:n.*637+19_*637+23delinsGGTCT
ENST00000700310.1:c.536+19_536+23delinsGGTCT	ENSP00000514937.1:n.536+19_536+23delinsGGTCT
ENST00000700311.1:c.548+19_548+23delinsGGTCT	ENSP00000514938.1:n.548+19_548+23delinsGGTCT
ENST00000700312.1:c.299+19_299+23delinsGGTCT	ENSP00000514939.1:n.299+19_299+23delinsGGTCT
ENST00000700313.1:c.536+19_536+23delinsGGTCT	ENSP00000514940.1:n.536+19_536+23delinsGGTCT
ENST00000700314.1:c.*487+19_*487+23delinsGGTCT	ENSP00000514941.1:n.*487+19_*487+23delinsGGTCT
ENST00000700315.1:c.*106+19_*106+23delinsGGTCT	ENSP00000514942.1:n.*106+19_*106+23delinsGGTCT
ENST00000700316.1:c.*328+19_*328+23delinsGGTCT	ENSP00000514943.1:n.*328+19_*328+23delinsGGTCT
ENST00000700317.1:c.548+19_548+23delinsGGTCT	ENSP00000514944.1:n.548+19_548+23delinsGGTCT
ENST00000700318.1:c.*210+19_*210+23delinsGGTCT	ENSP00000514945.1:n.*210+19_*210+23delinsGGTCT
ENST00000700319.1:c.481-5705_481-5701delinsGGTCT	ENSP00000514946.1:n.481-5705_481-5701delinsGGTCT
ENST00000700320.1:c.548+19_548+23delinsGGTCT	ENSP00000514947.1:n.548+19_548+23delinsGGTCT
ENST00000700321.1:c.548+19_548+23delinsGGTCT	ENSP00000514948.1:n.548+19_548+23delinsGGTCT
ENST00000700322.1:c.536+19_536+23delinsGGTCT	ENSP00000514949.1:n.536+19_536+23delinsGGTCT
ENST00000700323.1:c.548+19_548+23delinsGGTCT	ENSP00000514950.1:n.548+19_548+23delinsGGTCT
ENST00000700324.1:c.536+19_536+23delinsGGTCT	ENSP00000514951.1:n.536+19_536+23delinsGGTCT
ENST00000700375.1:c.548+19_548+23delinsGGTCT	ENSP00000514966.1:n.548+19_548+23delinsGGTCT
ENST00000700376.1:n.1132+19_1132+23delinsGGTCT
ENST00000700377.1:c.548+19_548+23delinsGGTCT	ENSP00000514967.1:n.548+19_548+23delinsGGTCT
ENST00000700378.1:c.548+19_548+23delinsGGTCT	ENSP00000514968.1:n.548+19_548+23delinsGGTCT
ENST00000700379.1:n.946+19_946+23delinsGGTCT
ENST00000700388.1:n.795+19_795+23delinsGGTCT
ENST00000700389.1:c.536+19_536+23delinsGGTCT	ENSP00000514970.1:n.536+19_536+23delinsGGTCT
ENST00000700390.1:n.2259+19_2259+23delinsGGTCT
ENST00000700404.1:n.1431+19_1431+23delinsGGTCT
ENST00000700432.1:n.905+19_905+23delinsGGTCT
ENST00000700433.1:n.683+19_683+23delinsGGTCT
ENST00000700434.1:n.801+19_801+23delinsGGTCT
ENST00000700435.1:n.683+19_683+23delinsGGTCT
ENST00000700436.1:c.548+19_548+23delinsGGTCT	ENSP00000514987.1:n.548+19_548+23delinsGGTCT
ENST00000700437.1:c.299+19_299+23delinsGGTCT	ENSP00000514988.1:n.299+19_299+23delinsGGTCT
ENST00000700467.1:n.805+19_805+23delinsGGTCT
ENST00000700468.1:c.536+19_536+23delinsGGTCT	ENSP00000515001.1:n.536+19_536+23delinsGGTCT
ENST00000700469.1:c.536+19_536+23delinsGGTCT	ENSP00000515002.1:n.536+19_536+23delinsGGTCT
ENST00000324501.10:c.548+19_548+23delinsGGTCT MANE Select	ENSP00000326366.5:n.548+19_548+23delinsGGTCT
ENST00000324501.9:c.548+19_548+23delinsGGTCT	ENSP00000326366.5:n.548+19_548+23delinsGGTCT
ENST00000357710.8:c.536+19_536+23delinsGGTCT	ENSP00000350342.4:n.536+19_536+23delinsGGTCT
ENST00000394164.5:c.536+19_536+23delinsGGTCT	ENSP00000377719.1:n.536+19_536+23delinsGGTCT
ENST00000406768.1:c.272+19_272+23delinsGGTCT	ENSP00000385948.1:n.272+19_272+23delinsGGTCT
ENST00000553855.5:c.548+19_548+23delinsGGTCT	ENSP00000452242.1:n.548+19_548+23delinsGGTCT
ENST00000555386.5:c.536+19_536+23delinsGGTCT	ENSP00000450845.1:n.536+19_536+23delinsGGTCT
ENST00000557511.5:c.548+19_548+23delinsGGTCT	ENSP00000451429.1:n.548+19_548+23delinsGGTCT
NM_000021.3:c.548+19_548+23delinsGGTCT	NP_000012.1:n.548+19_548+23delinsGGTCT
NM_007318.2:c.536+19_536+23delinsGGTCT	NP_015557.2:n.536+19_536+23delinsGGTCT
XM_005267864.1:c.548+19_548+23delinsGGTCT	XP_005267921.1:n.548+19_548+23delinsGGTCT
XM_005267866.1:c.536+19_536+23delinsGGTCT	XP_005267923.1:n.536+19_536+23delinsGGTCT
XM_011536971.1:c.548+19_548+23delinsGGTCT	XP_011535273.1:n.548+19_548+23delinsGGTCT
XM_011536972.1:c.548+19_548+23delinsGGTCT	XP_011535274.1:n.548+19_548+23delinsGGTCT
XM_011536973.1:c.536+19_536+23delinsGGTCT	XP_011535275.1:n.536+19_536+23delinsGGTCT
XM_011536974.1:c.536+19_536+23delinsGGTCT	XP_011535276.1:n.536+19_536+23delinsGGTCT
XM_005267864.3:c.548+19_548+23delinsGGTCT	XP_005267921.1:n.548+19_548+23delinsGGTCT
XM_005267866.2:c.536+19_536+23delinsGGTCT	XP_005267923.1:n.536+19_536+23delinsGGTCT
XM_011536972.2:c.548+19_548+23delinsGGTCT	XP_011535274.1:n.548+19_548+23delinsGGTCT
XM_011536973.2:c.536+19_536+23delinsGGTCT	XP_011535275.1:n.536+19_536+23delinsGGTCT
XM_011536974.2:c.536+19_536+23delinsGGTCT	XP_011535276.1:n.536+19_536+23delinsGGTCT
NM_000021.4:c.548+19_548+23delinsGGTCT MANE Select	NP_000012.1:n.548+19_548+23delinsGGTCT
NM_007318.3:c.536+19_536+23delinsGGTCT	NP_015557.2:n.536+19_536+23delinsGGTCT